Hb Gavello beta47(CD6)Asp->Gly
         
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X moves as Hb S
CHROMATOGRAPHY Not reported
STRUCTURE STUDIES Tryptic digestion; fingerprinting; amino acid analysis; chymotryptic digestion
DNA ANALYSES Not reported; presumed mutation GAT->GGT at codon 47
FUNCTION STUDIES Normal
STABILITY Normal
OCCURRENCE Found in a 79-year-old female of North Italian origin
OTHER INFORMATION Quantity in the heterozygote 42%
       
REFERENCES
1. Marinucci, M., Mavilio, F., Tentori, L., and Alberti, R.: Hemoglobin, 1:771, 1977.


This material is from the book A Syllabus of Human Hemoglobin Variants (1996) by Titus H.J. Huisman, Marianne F.H. Carver, and Georgi D. Efremov, published by The Sickle Cell Anemia Foundation in Augusta, GA, USA. Copyright © 1996 by Titus H.J. Huisman. All rights reserved. Neither this work nor any part may be reproduced or transmitted in any form or by any means, electronic or mechanical, microfilming and recording, or by any information storage and retrieval systems, without written permission.